Scientific Publications

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Professional(s) : Giacomo Maria Bacci, Hélène Dollfus, Amélie Gavard, Monika Grudzinska Pechhacker, Bart LEROY, Francesca Simonelli, Francesco Testa

Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France ; Ghent University Hospital, Ghent, Belgium ; AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy ; AOU Careggi - AOU Meyer Consortium, Firenze, Italy

ADhoc–An immersive serious game that raises awareness among healthcare professionals about announcing a diagnosis of rare diseases

Professional(s) : Hélène Dollfus, Catherine Vignal-Clermont, Caroline Wernert-Iberg, Russell Wheeler

Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Residual Attention Network for distinction between visible optic disc drusen and healthy optic discs

Professional(s) : Katarzyna Nowomiejska, Reda ZEMAITIENE, Robert REJDAK

Center(s) : Medical University of Lublin, Lublin, Poland ; Hospital of Lithuanian University of Health Sciences, Kauno Klinikos, Kaunas, Lithuania

Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

Professional(s) : Axel PETZOLD

Center(s) : Leiden University Medical Center/Academic Medical Center Amsterdam, Netherlands

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation

Professional(s) : Petra Liskova, Bohdan Kousal

Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic

Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy

Professional(s) : Benedetto Falsini

Center(s) : Fondazione Policlinico Universitario A. Gemelli - Roma, Italy

Working group(s) : Retinal Rare Eye Diseases (WG1)

Shedding light on myopia by studying complete congenital stationary night blindness

Professional(s) : Christina Zeitz, Isabelle Audo, José-Alain Sahel

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)

Professional(s) : Rupert STRAUSS, Isabelle Audo

Center(s) : Department of ophthalmology, Kepler University Clinic Linz, Linz, Austria ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot

Professional(s) : Elfride DE BAERE

Center(s) : Ghent University Hospital, Ghent, Belgium

Working group(s) : Genetic Diagnostics (TWG6)

Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

Professional(s) : Elfride DE BAERE

Center(s) : Ghent University Hospital, Ghent, Belgium

Working group(s) : Genetic Diagnostics (TWG6)